FERMT2
FERM domain containing kindlin 2
Summary
Enables several functions, including phosphatidylinositol-3,4,5-trisphosphate binding activity; protein serine/threonine kinase binding activity; and type I transforming growth factor beta receptor binding activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of cellular component biogenesis; and positive regulation of intracellular signal transduction. Acts upstream of or within cell adhesion and protein localization to cell junction. Located in several cellular components, including adherens junction; cytoplasmic side of plasma membrane; and focal adhesion. Biomarker of acute myeloid leukemia. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143432898 | 14:53,325,156 | T/C | — | uncertain significance |
| rs377196292 | 14:53,326,376 | C/A | — | uncertain significance |
| rs2502490957 | 14:53,327,068 | A/G | — | uncertain significance |
| rs189588276 | 14:53,327,743 | T/C | — | likely benign |
| rs1566716526 | 14:53,331,240 | G/C | — | uncertain significance |
| rs1885155866 | 14:53,331,279 | G/A | — | uncertain significance |
| rs760477161 | 14:53,331,541 | G/A | — | uncertain significance |
| rs62003517 | 14:53,333,116 | C/A | — | — |
| rs768397781 | 14:53,339,519 | C/T | — | uncertain significance |
| rs1885711087 | 14:53,339,573 | C/T | — | uncertain significance |
| rs766436614 | 14:53,341,960 | C/A | — | uncertain significance |
| rs1130597 | 14:53,341,962 | C/G | — | likely benign |
| rs371241593 | 14:53,345,370 | G/C | — | uncertain significance |
| rs531559889 | 14:53,348,056 | T/C | — | uncertain significance |
| rs763558186 | 14:53,348,127 | T/C | — | uncertain significance |
| rs2502595668 | 14:53,348,151 | G/C | — | uncertain significance |
| rs7161281 | 14:53,350,479 | A/T | — | — |
| rs6572869 | 14:53,353,454 | A/T | — | — |
| rs62003532 | 14:53,357,111 | G/C | — | — |
| rs563973465 | 14:53,360,025 | A/G | — | uncertain significance |
| rs370579036 | 14:53,360,077 | T/G | — | uncertain significance |
| rs199890407 | 14:53,360,135 | G/T | — | uncertain significance |
| rs12147852 | 14:53,361,875 | G/T | — | — |
| rs12889169 | 14:53,368,232 | C/T | intron variant | — |
| rs8008270 | 14:53,372,330 | T/C | intron variant | — |
| rs73304351 | 14:53,375,140 | G/A | intron variant | — |
| rs368273016 | 14:53,385,852 | C/G | — | uncertain significance |
| rs556578889 | 14:53,385,937 | G/C | — | uncertain significance |
| rs74825460 | 14:53,390,015 | C/T | intron variant | — |
| rs17125924 | 14:53,391,680 | A/G | intron variant | — |
| rs8012109 | 14:53,399,337 | C/T | intron variant | — |
| rs17125944 | 14:53,400,629 | T/C | intron variant | — |
| rs7494379 | 14:53,411,391 | C/G | — | — |
| rs147527926 | 14:53,417,220 | G/A | — | uncertain significance |
| rs150070069 | 14:53,417,225 | C/G | — | uncertain significance |
| rs1014128205 | 14:53,417,261 | G/A | — | uncertain significance |
| rs375271458 | 14:53,417,262 | G/A | — | uncertain significance |
| rs28365937 | 14:53,418,233 | C/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.